| Title: |
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1 |
| Authors: |
Brennenstuhl, Heiko; Didiášová, Miroslava; Assmann, Birgit; Bertoldi, Mariarita; Molla, Gianluca; Jung-Klawitter, Sabine; Kuseyri Hübschmann, Oya; Schröter, Julian; Opladen, Thomas; Tikkanen, Ritva |
| Publication Year: |
2022 |
| Collection: |
Publication Server of the Justus-Liebig-University of Giessen |
| Subject Terms: |
ddc:570 |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
https://jlupub.ub.uni-giessen.de//handle/jlupub/6848; http://dx.doi.org/10.22029/jlupub-6299 |
| DOI: |
10.22029/jlupub-6299 |
| Availability: |
https://jlupub.ub.uni-giessen.de//handle/jlupub/6848; https://doi.org/10.22029/jlupub-6299 |
| Rights: |
Namensnennung 4.0 International ; https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.133090FA |
| Database: |
BASE |